Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31538849C= , CM000680.2:g.31538849C= | GRCh38 |
| NC_000018.9:g.29118812C= , CM000680.1:g.29118812C= | GRCh37 |
| NC_000018.8:g.27372810C= | NCBI36 |
| NG_007072.3:g.45608C= , LRG_397:g.45608C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.1750C= MANE Select | NP_001934.2:p.Gln584= |
| ENST00000261590.13:c.1750C= MANE Select | ENSP00000261590.8:p.Gln584= |
| NM_001943.3:c.1750C= , LRG_397t1:c.1750C= | NP_001934.2:p.Gln584= |
| NM_001943.4:c.1750C= | NP_001934.2:p.Gln584= |
| ENST00000261590.12:c.1750C= | ENSP00000261590.8:p.Gln584= |
| XM_024451095.1:c.1216C= | XP_024306863.1:p.Gln406= |